← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-240630209-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240630209&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240630209,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001195381.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "NM_005301.5",
"protein_id": "NP_005292.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407714.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005301.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000407714.2",
"protein_id": "ENSP00000384263.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005301.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407714.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_001195381.3",
"protein_id": "NP_001182310.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 340,
"cds_start": 350,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195381.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_001195382.3",
"protein_id": "NP_001182311.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 340,
"cds_start": 350,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195382.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_001394730.1",
"protein_id": "NP_001381659.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 340,
"cds_start": 350,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394730.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "ENST00000430267.2",
"protein_id": "ENSP00000411788.2",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 340,
"cds_start": 350,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430267.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000319838.10",
"protein_id": "ENSP00000322731.5",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319838.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000403859.1",
"protein_id": "ENSP00000385140.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403859.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000438013.3",
"protein_id": "ENSP00000415890.3",
"transcript_support_level": 6,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438013.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000896970.1",
"protein_id": "ENSP00000567029.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896970.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000954246.1",
"protein_id": "ENSP00000624305.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954246.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000954247.1",
"protein_id": "ENSP00000624306.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954247.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000954248.1",
"protein_id": "ENSP00000624307.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954248.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000954249.1",
"protein_id": "ENSP00000624308.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954249.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000954250.1",
"protein_id": "ENSP00000624309.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954250.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Thr86Met",
"transcript": "ENST00000954251.1",
"protein_id": "ENSP00000624310.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 309,
"cds_start": 257,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954251.1"
}
],
"gene_symbol": "GPR35",
"gene_hgnc_id": 4492,
"dbsnp": "rs527604027",
"frequency_reference_population": 0.000012705285,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000112525,
"gnomad_genomes_af": 0.0000262736,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22366046905517578,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.299,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2054,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.072,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001195381.3",
"gene_symbol": "GPR35",
"hgnc_id": 4492,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}